Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans
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Fecha
2019-12
Profesor/a Guía
Facultad/escuela
Idioma
en
Título de la revista
ISSN de la revista
Título del volumen
Editor
Nature Publishing Group
Nombre de Curso
Licencia CC
Atribución 4.0 Internacional (CC BY 4.0)
Licencia CC
https://creativecommons.org/licenses/by/4.0/deed.es
Resumen
Whole human genome sequencing initiatives help us understand population history and the basis of genetic diseases. Current data mostly focuses on Old World populations, and the information of the genomic structure of Native Americans, especially those from the Southern Cone is scant. Here we present annotation and variant discovery from high-quality complete genome sequences of a cohort of 11 Mapuche-Huilliche individuals (HUI) from Southern Chile. We found approximately 3.1 × 10 6 single nucleotide variants (SNVs) per individual and identified 403,383 (6.9%) of novel SNVs events. Analyses of large-scale genomic events detected 680 copy number variants (CNVs) and 4,514 structural variants (SVs), including 398 and 1,910 novel events, respectively. Global ancestry composition of HUI genomes revealed that the cohort represents a sample from a marginally admixed population from the Southern Cone, whose main genetic component derives from Native American ancestors. Additionally, we found that HUI genomes contain variants in genes associated with 5 of the 6 leading causes of noncommunicable diseases in Chile, which may have an impact on the risk of prevalent diseases in Chilean and Amerindian populations. Our data represents a useful resource that can contribute to population-based studies and for the design of early diagnostics or prevention tools for Native and admixed Latin American populations. © 2019, The Author(s).
Notas
Indexación: Scopu
Palabras clave
Adult, Aged, Aged, 80 and over, Chile, Cohort Studies, DNA Copy Number Variations, Ethnic Groups, Female, Genetic Markers, Genetics, Population, Genome, Human, Genomics, Haplotypes, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide, Whole Genome Sequencing, Young Adult
Citación
Scientific Reports Volume 9, Issue 11 December 2019 Article number 2132
DOI
10.1038/s41598-019-39391-z